Information on Folate malabsorption, hereditary
Basic details
Name: Folate malabsorption, hereditary | Acronym:
Alt. names:
Gene: SLC46A1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may present in infancy with anemia, diarrhea, infections/immune deficiency, and cognitiive impairment, and treatment (eg, with folate/folinic acid supplementation) can be effective. Refs. PMIDs: 5450108; 3987728; 2381546; 11804211; 11807405; 7129779; 17641272; 18559978; 17446347; 21333572; 21489556
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Diarrhea |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Folate-responsive megaloblastic anemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced folic acid levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.